Learning Objectives

  • Discuss the clinical benefit of allogeneic hematopoietic stem cell transplantation (HSCT) in older patients with MDS

  • Describe the clinical relevance of genomic profiling in MDS

  • Provide evidence for the utility of genomic information to define eligibility for and the optimal timing of transplantation

Two patients aged 72 and 71 years, referred to as patient A and patient B, respectively, were admitted to our institution in March 2022. Both presented with blood cytopenia and were diagnosed with myelodysplastic syndrome (MDS) with multilineage dysplasia according to World Health Organization 2016 criteria. Bone marrow blasts were less than 5%, and karyotype was normal in both cases. Mutation screening revealed an isolated TP53 gene mutation in patient A and mutations in TET2 and SRSF2 genes in patient B. Accordingly, both patients were classified as intermediate Revised International Prognostic Scoring System (IPSS-R) risk...

1.
Greenberg
PL
,
Tuechler
H
,
Schanz
J
, et al.
Revised international prognostic scoring system for myelodysplastic syndromes
.
Blood
.
2012
;
120
(
12
):
2454
-
2465
.
doi:10.1182/blood-2012-03-420489
.
2.
Papaemmanuil
E
,
Gerstung
M
,
Malcovati
L
, et al
;
Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium
.
Clinical and biological implications of driver mutations in myelodysplastic syndromes
.
Blood
.
2013
;
122
(
22
):
3616
-
3627
, quiz 3699.
doi:10.1182/blood-2013-08-518886
.
3.
Bernard
E
,
Nannya
Y
,
Hasserjian
RP
, et al.
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes
.
Nat Med
.
2020
;
26
(
10
):
1549
-
1556
.
doi:10.1038/s41591-020-1008-z
.
4.
Bernard
E
,
Tuechler
H
,
Greenberg
PL
, et al.
Molecular International Prognostic Scoring System for myelodysplastic syndromes
.
NEJM Evid
.
2022
;
1
(
7
).
doi:10.1056/EVIDoa2200008
.
5.
de Witte
T
,
Bowen
D
,
Robin
M
, et al.
Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel
.
Blood
.
2017
;
129
(
13
):
1753
-
1762
.
doi:10.1182/blood-2016-06-724500
.
6.
Kröger
N
,
Iacobelli
S
,
Franke
GN
, et al.
Dose-reduced versus standard conditioning followed by allogeneic stem-cell transplantation for patients with myelodysplastic syndrome: a prospective randomized phase III study of the EBMT (RICMAC trial)
.
J Clin Oncol
.
2017
;
35
(
19
):
2157
-
2164
.
doi:10.1200/JCO.2016.70.7349
.
7.
Kröger
N
,
Sockel
K
,
Wolschke
C
, et al.
Comparison between 5-azacytidine treatment and allogeneic stem-cell transplantation in elderly patients with advanced MDS according to donor availability (VidazaAllo study)
.
J Clin Oncol
.
2021
;
39
(
30
):
3318
-
3327
.
doi:10.1200/JCO.20.02724
.
8.
Nakamura
R
,
Saber
W
,
Martens
MJ
, et al.
Biologic assignment trial of reduced-intensity hematopoietic cell transplantation based on donor availability in patients 50-75 years of age with advanced myelodysplastic syndrome
.
J Clin Oncol
.
2021
;
39
(
30
):
3328
-
3339
.
doi:10.1200/JCO.20.03380
.
9.
Robin
M
,
Porcher
R
,
Ciceri
F
, et al.
Haploidentical transplant in patients with myelodysplastic syndrome
.
Blood Adv
.
2017
;
1
(
22
):
1876
-
1883
.
doi:10.1182/bloodadvances.2017007146
.
10.
Della Porta
MG
,
Jackson
CH
,
Alessandrino
EP
, et al.
Decision analysis of allogeneic hematopoietic stem cell transplantation for patients with myelodysplastic syndrome stratified according to the revised International Prognostic Scoring System
.
Leukemia
.
2017
;
31
(
11
):
2449
-
2457
.
doi:10.1038/leu.2017.88
.
11.
Della Porta
MG
,
Gallì
A
,
Bacigalupo
A
, et al.
Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation
.
J Clin Oncol
.
2016
;
34
(
30
):
3627
-
3637
.
doi:10.1200/JCO.2016.67.3616
.
12.
Sauta
E
,
Robin
M
,
Bersanelli
M
, et al.
Real-world validation of Molecular International Prognostic Scoring System for myelodysplastic syndromes
.
J Clin Oncol
.
2023
;
41
(
15
):
2827
-
2842
.
doi:10.1200/JCO.22.01784
.
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